Under the direction of Rady Children’s cardiologist Paul Grossfeld, MD, groundbreaking research is underway into the genetic causes of Hypoplastic Left Heart Syndrome (HLHS). This work is bringing hope to children and families across the country who face an HLHS diagnosis.
The staggering statistics about HLHS:
Recently, Dr. Grossfeld and his team identified one of the underlying genetic causes of HLHS: the deletion of the ETS1 gene in patients with a rare genetic disorder called Jacobsen Syndrome. Since the discovery of the ETS1 gene as a cause of HLHS, Dr. Grossfeld’s laboratory team has been collaborating with scientists and physicians around the world to create disease models using animal systems that can be manipulated, tested, and studied. What they have learned through this rigorous, iterative examination is exciting and encouraging.
Since this breakthrough discovery, Dr. Grossfeld and his team have determined that the deletion of ETS1 has direct impact on the expression of 15 additional genes, some of which have already been associated with CHDs. This discovery paves the way toward more focused studies on this collection of downstream genes; these genetic pathways will shed light on congenital heart defect diagnosis, treatment, and prevention.
Thanks to the visionary generosity of our philanthropic community, Dr. Grossfeld and his team have a clear path for future studies. They intend to further investigate this network of genes whose expression is linked to the deletion of ETS1. Ultimately, they aim to identify prenatal interventions based on their research findings that could prevent HLHS altogether.
Thank you for your support of this groundbreaking work.
Learn more by listening to my interview on the One Rare Heart podcast. You can do so by copying and pasting the following link into your browswer: https://onerareheart.com/?p=191
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